Research revealing the main cause of narcolepsy named as breakthrough of the year

Research sheds light on a central mechanism behind sleep and waking

Two teams of scientists, one in the US and the other in Japan, have won a joint prize for their research unravelling the main causes of the chronic sleep disorder narcolepsy.

The researchers, Emmanuel Mignot from the Stanford University School of Medicine and Masashi Yanagisawa from the University of Tsukuba, won the prestigious Breakthrough Prize for Life Science 2023 for finding that narcolepsy is a neurodegenerative disease.

Running separate labs, the two led teams of scientists pursuing different research programmes that converged on a new understanding of the genetic causes of narcolepsy.

They found that the protein orexin which regulates wakefulness – also called hypocretin – plays a major role in the chronic sleep disorder.

The two labs unravelled that narcolepsy is triggered in humans by the immune system attacking cells that produce orexin likely “mistaking” it for a viral particle, and their findings have led to treatments that could relieve symptoms of the disease.

The award-winning studies also shed light on a central mechanism behind sleep and waking, and have enabled the design of sleep-inducing drugs, researchers say.

The awards were each worth $3 million and its sponsors included philanthropists Sergey Brin, Priscilla Chan and Mark Zuckerberg, Julia and Yuri Milner, and Anne Wojcicki.

Google’s Deepmind researchers Demis Hassabis and John Jumper also won the award in the Life Sciences category for developing the artificial intelligence system AlphaFold 2 that rapidly and accurately predicts the 3D structure of proteins.

Earlier this year, the AI uploaded the structures of 200 million proteins, which is nearly every known protein from across the tree of life, to a public database.

The AI reduces the time spent by scientists to determine protein structure from months or years to hours or minutes, posing an immense potential for application in drug development, synthetic biology, and in understanding diseases.

Researchers who discovered an entirely new type of interaction in cells between proteins and other biomolecules in the absence of membranes were also awarded the Breakthrough Prize in the Life Sciences category.

They found that membraneless liquid-like droplets in cells – similar to oil droplets forming in water – play a role in numerous processes within cells including regulation of DNA and cell division.

The findings have clinical applications and may lead to advances in the treatment of neurodegenerative diseases such as ALS, scientists say.

In Mathematics, Daniel A Spielman won the award for multiple discoveries in theoretical computer science and mathematics, and in Physics the Breakthrough Prize was shared by Charles H Bennett, Gilles Brassard, David Deutsch and Peter Shor for their work in quantum information.